Objective To investigate the prevalence of DUOX2 mutations in Chinese patients with congenital hypothyroidism (CH) and to discuss the inheritance pattern of DUOX2 gene.Methods Blood samples were collected from 91 CH children and their genomic DNA was extracted from peripheral blood leukocytes.All exons and exon-intron boundaries of DUOX2 were analyzed by target next-generation sequencing and family trios was established to study the inheritance pattern of DUOX2 gene.Results Fifty-four out of 91 children with CH carried DUOX2 mutation, with a prevalence of 59.34%.Of the 54 CH children, 36 carried DUOX2 biallelic mutations.In all 12 family trios with probands carrying biallelic DUOX2 mutations, the parents carried heterozygous DUOX2 mutations while still showing normal thyroid function, suggesting that CH caused by DUOX2 mutations is inherited in an autosomal recessive manner.Conclusion DUOX2 gene is one of the most frequently mutated genes in Chinese CH patients and its inheritance pattern is an autosomal recessive one.

Objective:To evaluate the effect of different concentrations of sevoflurane inhalation anesthesia on hepatic blood flow in children with hepatoblastoma (HB).Methods:A total of 22 children who underwent radical resection of HB in Shanxi Children's Hospital from January 2019 to August 2021 were perspectively enrolled, including 15 males and 7 females, with an average age of 17±7 months. There were 19 normal children undergoing ultrasound examination without other systemic diseases who received hernia, cryptorchidism, hydrocele of tunica vaginalis surgery during the same period, including 11 males and 8 females, with an average age of 18±5 months. After inhaling different concentrations of sevoflurane preoperatively and intraoperatively, ultrasound apparatus was used to detect the hepatic blood flow (HBF) in HB children. The portal blood flow (PBF), hepatic artery blood flow (HABF), PBF/HABF and HBF were compared between HB children and non-HB children before operation and after inhalation of 1% sevoflurane, 2% sevoflurane.Results:Compared with non-HB children, children with HB had lower PBF [41.9 ml/min (26.8 ml/min, 63.1 ml/min) vs. 66.7 ml/min (41.4 ml/min, 137.2 ml/min), Z = -2.62, P = 0.008], increased HABF [31.2 ml/min (20.4 ml/min, 50.3 ml/min) vs. 12.9 ml/min (5.5 ml/min, 25.0 ml/min), Z = -3.59, P < 0.001], decreased PBF/HABF [1.3 (1.2, 1.4) vs. 6.1 (5.0, 7.5), Z = -5.68, P < 0.001], and the difference in HBF between the both groups was statistically significant ( P>0.05). Compared with the 2% sevoflurane HB group, PBF was reduced [41.1 ml/min (25.0 ml/min, 62.0 ml/min) vs. 63.0 ml/min (40.5 ml/min, 78.3 ml/min), Z = -2.09, P = 0.036] and PBF/HABF was reduced [1.3 (1.1,1.5) vs. 1.8 (1.6, 1.9), Z = -4.01, P<0.001] in the 1% sevoflurane group, and the differences in HABF and HBF were statistically significant (all P>0.05). Conclusion:Relatively low concentration of sevoflurane reduces HBF by reducing PBF for HB children after radical surgery.

Objective:To construct single-cell transcription landscape of T cell in peripheral blood mononuclear cells(PBMCs) and thyroid tissue of patients with Hashimoto ′s thyroiditis(HT), and to analyze the changes in the proportion and functionality of T cell clusters in HT disease state.Methods:Single cell RNA sequencing was performed on PBMCs and thyroid tissue from 5 HT patients. Single cell RNA sequencing data of PBMCs from 5 healthy individuals were retrieved from public databases. After preliminary clustering, the clusters expressing CD3E were extracted and clustering again, and the names of each cluster were determined according to the known cell markers. The proportion of each cell subtype was compared, and the differentially expressed genes in different samples were analyzed.Results:After quality control, the 71 533 T cells were classified into 19 cell clusters. Among them, the proportion and function of C1_CD4 + Naive T cell clusters, C3_CD4 + Treg cell clusters, C7_CD8 + Naive T cell clusters, C8_GNLY -CD8 + T cell clusters, C10_RORC + CD8 + T cell clusters, C11_ GZMK + CD8 + T cell clusters, C12_CCL4 + CD8 + T cell clusters, and C18_PTGDS + NK cell clusters in thyroid tissue of HT patients were significantly different from those in PBMCs of healthy controls and HT patients. Conclusion:The proportion of multiple T cells in thyroid tissue of HT patients were significantly different from those in PBMCs. Among them, the proportion of three of CD8 + T cell subsets with high expression of cell killing-related genes in thyroid tissue T cells of HT patients is higher than that in PBMCs T cells, and it is statistically significant. In addition, the functionality of various T cells in the thyroid tissue of HT patients are also significantly different from those in PBMCs. A cluster of GZMK + CD8 + T cells showes significantly lower expression of genes related to PD1 pathway in thyroid tissues of HT patients compared with cells in PBMCs of HT patients, also a cluster of CCL4 + CD8 + T cells showes significantly lower expression of genes related to IL-12 pathway.

Objective:To analyze the role of baseline mesorectal fascia (MRF) status and the correlation between MRF changes and prognosis after neoadjuvant therapy in patients with locally advanced rectal cancer.Methods:Totally 321 patients with locally advanced rectal cancer were retrospectively analyzed from January 2014 to December 2016 in Peking University Cancer Hospital. All patients underwent surgery after neoadjuvant radiotherapy and chemotherapy, and were followed up regularly after surgery. The MRF status, extramural vascular invasion (EMVI) status, tumor location, tumor stage and lymph node status were evaluated on baseline MRI. For patients with positive baseline MRF, preoperative MRF status was also evaluated. Chi-square test or independent t test were used to compare the characteristics between MRF positive and negative patients. Kaplan-Meier curve, log-rank test and multivariate Cox regression were used to analyze the correlation between imaging features and prognosis. Results:In all of the 321 subjects, 193 (60.1%) had positive baseline MRF, 54 (28.0%) of the 193 patiens had negative MRF after neoadjuvant therapy, and 139 (72.0%) of them still had positive MRF preoperatively. The postoperative pathological T and N stages were significantly higher in patients with positive baseline MRF than those with negative MRF, and the proportion of patients achieving complete pathological response was significantly lower than those with negative MRF (all P<0.05). The postoperative pathological T and N stages of patients with MRF negative conversion were significantly lower than those without MRF negative conversion. In patients with negative baseline MRF and patients with negative MRF conversion after neoadjuvant therapy, the proportion of positive MRI EMVI was significantly lower (all P<0.05). Univariate survival analysis showed that overall survival and metastasis free survival were poorer in patients with positive MRF at baseline, with a hazard ratio of 3.33 and 1.69, respectively. There was no significant correlation between negative MRF conversion after neoadjuvant therapy and overall survival, metastasis free survival and recurrence free survival. Multivariate Cox analysis showed that baseline MRF and EMVI status were independent factors for overall survival and metastasis free survival, with a risk ratio of 2.15 and 3.35 for overall survival, 1.13 and 2.74 for metastasis free survival, respectively. Conclusions:Baseline MRF status is one of the independent prognostic predictors in locally advanced rectal cancer patients with neoadjuvant therapy. However, the role of the change in MRF status after neoadjuvant therapy is uncertain for predicting prognosis.